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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 2 unique variants retrieved

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  c.1001T>C
p.(Ile334Thr) Legacy AA 288
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1001
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1933
6
2
Mild
I
-
Centre B38 (unpublished)
3678
-
-
Mild
-
NO
United States
-
Miller et al (2012)
4189
3
Moderate
NO
United States
Johnsen et al (2017)
  c.1002T>G
p.(Ile334Met) Legacy AA 288
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1002
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1934
<1
<1
Severe
-
United States
-
Bottema et al (1991)
3679
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
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